McMillan S A, Hill A J, Graham C A, Nevin N C, Fay A C
Regional Immunology Laboratory, Belfast City Hospital.
J Med Genet. 1989 Jul;26(7):431-3. doi: 10.1136/jmg.26.7.431.
The BglII polymorphism near the constant region of the T cell receptor beta chain (TCR c beta) has been investigated in normal controls, patients with cystic fibrosis (CF), and CF carriers. A significant increase was found in the frequency of the 10.0:9.2 kb heterozygous genotype in the CF carrier group (71%) as compared with normal controls (44%) (p = 0.005). Patients with CF also showed an increased frequency of the heterozygous genotype but this was not significant. These results represent a previously unreported disease association and suggest that there may be some form of epistatic interaction between the CF gene and the TCR beta genes such that the double heterozygote is immunologically advantaged.
已在正常对照、囊性纤维化（CF）患者及CF携带者中研究了T细胞受体β链（TCR cβ）恒定区附近的BglII多态性。与正常对照（44%）相比，CF携带者组中10.0:9.2 kb杂合基因型的频率显著增加（71%）（p = 0.005）。CF患者的杂合基因型频率也有所增加，但不显著。这些结果代表了一种此前未报道的疾病关联，并表明CF基因与TCRβ基因之间可能存在某种形式的上位相互作用，使得双杂合子在免疫方面具有优势。
